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1、翻译 司大勇 吉林大学生命科学学院电话13321403210粗略翻译,重要处请参照原文Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a disorder with dermatologic, ophthalmologic, neurologic, and dental findings.色素失调症（IP），也称为Bloch-Sulzberger综合征，是皮肤科，眼科，神经和牙科的障碍 A few days after birth, the skin lesions appear on the e
2、xtremities and trunk of the affected children as a linear pattern of erythema with vesicles and bullae. These lesions last for weeks and evolve into verrucous lesions that last for several months, until groups of hyperpigmented macules appear, usually on the trunk. Such hyperpigmented spots represen
3、t abnormal melanin granules dispersed throughout the dermis. 出生后的几天，受影响儿童的四肢和躯干上的皮损出现,模式为线性红斑，其上有水疱和大疱。这些病变持续几个星期，并演变成疣状，持续几个月，直到组的色素沉着斑通常出现在躯干上。这种色素沉着斑点代表整个真皮的异常黑色素颗粒分散。The disease is inherited as X-linked dominant penetration. It is unfortunately lethal for male babies, but hypomorphic mutation, a
4、bnormal karyotypes and mosaicism provide three mechanisms for survival of males carrying a mutation at the IP locus这种疾病的遗传X连锁显性渗透(渗透是什么意思?)。不幸的是，这种疾病的男性婴儿致死，但亚等位基因突变，异常染色体核型和嵌合体为承载在IP位点突变的男性的生存提供了三种机制.Ophthalmic manifestations of the disease have been reported in 20-85% of cases. Ocular findings are
5、 typically divided into retinal and nonretinal manifestations. The major reported nonretinal manifestations include strabismus, nystagmus, optic nerve atrophy, conjunctival pigmentation, iris hypoplasia and uveitis. Retinal manifestations include foveal hypoplasia, anomaly of retinal pigment epithel
6、ium, retinal vascular nonperfusion, neovascularization, vitreous hemorrhage and retinal detachment.眼科疾病的表现已在20-85的病例报告。眼的结果通常分为视网膜和非视网膜的表现。报道非视网膜表现主要包括斜视，眼球震颤，视神经萎缩，眼结膜色素沉着，虹膜发育不全和葡萄膜炎。视网膜的表现包括中央凹发育不全，视网膜色素上皮细胞异常，视网膜血管无灌注，新生血管，玻璃体出血和视网膜脱离。Case Report这段不翻译Discussion讨论Bloch first used the term IP in 1
7、926 to describe a patient with striking skin changes and an ocularpseudoglioma.病名于1926年起源. In 1938, Sulzberger had noted other ectodermal defects in association with this condition.发现历史.The diagnosis of IP is usually based on clinical examination. 通常,通过临床检查来诊断.IP is characterized by typical cutaneou
8、s lesions and in many patients by abnormalities of the eye and central nervous system. 色素失禁症的特点是典型的皮肤损害，在许多患者的眼睛和中枢神经系统的异常。The skin lesions of IP may occur in four classical diagnostic stages: erythema, then vesicles and pustules (stage 1); verrucous lesions (stage 2), linear hyperpigmentation (stag
9、e 3), and pallor and scarring (stage 4). However, stages may overlap or not occur at all in the same patient.色素失禁症的皮损可能会出现在四个经典的诊断阶段：红斑，然后水疱和脓疱（第一阶段）;疣状病灶（第2阶段），线性色素沉着（第三阶段），和苍白和疤痕（阶段4）。然而，在同一病人,四个阶段可能会重叠或不都发生。 A linear hyperpigmentation that follows the Blaschko lines usually leads to diagnosis of
10、IP but it is not pathognomonic. 线性色素沉着随着Blaschko线发生,通常会导致患者诊断为色素失禁症，但它不是特异病征性的。(就是说,别的病也可能导致“线性色素沉着随着Blaschko线发生”的现象)Blaschko线的解释(不重要):Blaschkos lines, are skin lines invisible under normal conditions. They become apparent when some diseases of the skin or mucosa manifest themselves according to the
11、se patterns. They follow a V shape over the back, S shaped whorls over the chest, stomach, and sides, and wavy shapes on the head.1The lines are believed to trace the migration of embryonic cells.23 The severity of IP is related to ocular and neurological impairment. 色素失禁症的严重程度与眼和神经损伤相关。Several auth
12、ors mentioned the close relation of severe ocular and neurological involvement and authors have advocated neuroradiological explorations in the presence of any vascular retinopathy. In the literature, neurological manifestations have been reported in 18 to 36% of cases.几位作者提到的严重眼（指眼科严重症状）和神经系统受累的密切关
13、系（就是说，眼科的症状重，那么神经的也会重），他们主张存在任何血管性视网膜病变的患者作神经放射学检测。在文献中，神经系统的表现已经被18至36的病例中被报告。Seizures, delayed psychomotor development, hemiplegia, hemiparesis, microcephaly, spasticity and mental retardation are the major reported neurological findings. 癫痫发作，精神运动性延迟发展，半身不遂，偏瘫，小头畸形，痉挛和精神发育迟滞，是被报告的主要的神经科症状。In our
14、case, though the dermatological findings were similar to previous presentations, neurological findings such as seizures, hemiplegia and spasticity were not detected. 不翻译Cranial involvement may be unilateral or bilateral and cranial impairment is mainly on the contralateral side to the cutaneous find
15、ings. 颅脑损伤和皮肤损伤往往发生在对侧。In the previous reports, various MRI findings have been reported, such as corpus callosum hypoplasia, neuronal heterotopia, and small- and large-vessel occlusions. 先前的报道中, 出现各种各样的MRI结果,比如胼胝体发育不全,神经元异位,和小和大的血管闭塞。Focal cerebral, cerebellar and corpus callosum damage are typical
16、findings. Severe cerebral lesions can be seen with cerebellar lesions. 局灶的大脑,小脑和胼胝体损伤是典型的。，Involved regions may not be consistent with any vascular trace.涉及区域可能与血管跟踪结果不一致。 If dermatological findings arise in the neonatal period and if the scalp and neck skin are especially involved, cranial impairment will be more severe than usual.如果皮肤病学的
